MIRAGE syndrome
MIRAGE syndrome
Definition
An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.
Also known as MIRAGE, mirage syndrome, myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome, myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome, myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy — per MONDO